Zellweger Spectrum disorders include Zellweger Syndrome, Neonatal AdrenoLeukoDystrophy (NALD) and Infantile Refsum Disease (IRD) and can be caused by mutations in any of at least 12 different PEX genes resulting in a defect in peroxisome biogenesis. Complementation testing requires skin fibroblasts from Zellweger spectrum disorder patients and allows the rapid identification of the defective PEX gene, which then can be sequenced. Before complementation testing can be performed, peroxisome deficiency has to be confirmed by catalase immunofluorescence microscopy analyses and very long-chain fatty acid analysis.
Postnatal analysis: 1 - 3 months
Cultured skin fibroblasts
- Conditions: Room temperature.
- Specifics: Grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM HEPES) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicillin-streptomycin. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with name of patient, date of birth and date of collection, wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM HEPES) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.